Variant report

Variant	rs4766401
Chromosome Location	chr12:1741616-1741617
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1741511..1744510-chr12:1943871..1945697,2	K562	blood:
2	chr12:1740865..1743090-chr12:1799142..1801895,2	MCF-7	breast:
3	chr12:1741431..1743986-chr12:1900425..1902270,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000006831	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10773971	0.81[JPT][hapmap]
rs10848539	0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs10848540	0.90[ASN][1000 genomes]
rs11061886	0.90[ASN][1000 genomes]
rs11061887	0.81[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs11061888	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11061889	0.91[ASN][1000 genomes]
rs12300239	0.87[ASN][1000 genomes]
rs2079516	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2270031	0.85[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2270032	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2270033	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489308	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6489309	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv898584	chr12:1607390-1783251	Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv826180	chr12:1614395-1759431	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv826181	chr12:1619798-1754941	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv832304	chr12:1710249-1868642	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv898587	chr12:1732295-1756642	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv898588	chr12:1736314-1755960	Bivalent Enhancer Enhancers Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv556994	chr12:1737309-1743843	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv898589	chr12:1738111-1755654	Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
11	nsv898590	chr12:1740171-1757743	Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1733000-1744000	Weak transcription	K562	blood
2	chr12:1739800-1742000	Weak transcription	Right Atrium	heart
3	chr12:1739800-1753800	Weak transcription	Esophagus	oesophagus
4	chr12:1740000-1744000	Weak transcription	Aorta	Aorta
5	chr12:1740000-1748800	Weak transcription	Pancreas	Pancrea
6	chr12:1740000-1749000	Weak transcription	Ovary	ovary
7	chr12:1740200-1745000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:1740400-1741800	Weak transcription	Left Ventricle	heart
9	chr12:1740400-1743000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:1740400-1743800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr12:1740400-1744000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:1740400-1744200	Enhancers	Adipose Nuclei	Adipose
13	chr12:1740600-1741800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:1740600-1741800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr12:1740600-1741800	Weak transcription	Right Ventricle	heart
16	chr12:1740600-1743600	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:1740600-1745600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:1740600-1748800	Weak transcription	Gastric	stomach
19	chr12:1740600-1753400	Strong transcription	Osteobl	bone
20	chr12:1740600-1755000	Weak transcription	Spleen	Spleen
21	chr12:1740800-1741800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:1740800-1741800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:1740800-1741800	Enhancers	Fetal Brain Female	brain
24	chr12:1740800-1741800	Strong transcription	Fetal Muscle Trunk	muscle
25	chr12:1740800-1742000	Enhancers	Brain Germinal Matrix	brain
26	chr12:1740800-1742000	Weak transcription	NHLF	lung
27	chr12:1740800-1742200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:1740800-1744400	Enhancers	Fetal Brain Male	brain
29	chr12:1740800-1747200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:1740800-1751000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr12:1740800-1753200	Weak transcription	NH-A	brain
32	chr12:1740800-1753600	Weak transcription	Placenta	Placenta
33	chr12:1740800-1757400	Weak transcription	GM12878-XiMat	blood
34	chr12:1741000-1741800	Strong transcription	Fetal Muscle Leg	muscle
35	chr12:1741000-1742000	Enhancers	Fetal Intestine Large	intestine
36	chr12:1741000-1743600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:1741000-1743600	Strong transcription	Fetal Stomach	stomach
38	chr12:1741000-1744000	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr12:1741000-1744000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:1741000-1749200	Weak transcription	HSMMtube	muscle
41	chr12:1741200-1742200	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr12:1741200-1742200	Enhancers	Brain Cingulate Gyrus	brain
43	chr12:1741200-1742200	Enhancers	Stomach Smooth Muscle	stomach
44	chr12:1741200-1742600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:1741200-1742800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
46	chr12:1741200-1742800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:1741200-1742800	Strong transcription	HSMM	muscle
48	chr12:1741200-1743400	Strong transcription	NHDF-Ad	bronchial
49	chr12:1741400-1742200	Enhancers	Brain Hippocampus Middle	brain
50	chr12:1741400-1743000	Strong transcription	Fetal Lung	lung

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